S46T (p.Ser46Thr) variant of TREX1 (Three-prime repair exonuclease 1)
S46T (p.Ser46Thr) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S46T (p.Ser46Thr) variant details
- p.Ser46Thr
- gnomAD 3-48466792-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 10.80
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available